A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819506



Internal ID15237471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117624851..117626083hg38UCSC Ensembl
Innerchr1:118167473..118168705hg19UCSC Ensembl
Innerchr1:117968996..117970228hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381233
hg191233
hg181233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1419207
SamplesAK1
Known GenesFAM46C
MethodOligo aCGH
AnalysisThe array was scanned with Agilent DNA microarray scanner at 2 micron resolution. The resulting image was extracted by Agilent's Feature Extraction software. The log2 ratios were analyzed using NEXUS software. Each aberration call was manually checked to confirm the accuracy of the calls.
PlatformGSE19651
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819506
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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